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Primary lateral sclerosis
- ... mutations in the ALS2 gene that cause juvenile primary lateral sclerosis, which is characterized by progressive weakness and stiffness ... the loss of functional alsin protein causes juvenile primary lateral sclerosis. Loss of alsin may result in a disruption ...
- ... GG, Puls I, Fischbeck KH, Holzbaur EL. A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and ... Jr, Ludlow CL, Fischbeck KH. Mutant dynactin in motor neuron disease. Nat Genet. 2003 Apr;33(4):455-6. ...
- ... reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain. 2012 Sep;135(Pt 9):2875-82. ...
- ... of TECPR2 in a complex form of progressive motor neuron disease. Clin Genet. 2016 Aug;90(2):182-5. ...